ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1777+10A>G

gnomAD frequency: 0.20355  dbSNP: rs2286127
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081590 SCV000113521 benign not specified 2012-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081590 SCV000312065 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286532 SCV000467251 benign Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334280 SCV000467252 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000286532 SCV000677258 benign Cortical dysplasia-focal epilepsy syndrome 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000286532 SCV001717587 benign Cortical dysplasia-focal epilepsy syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000286532 SCV001821537 benign Cortical dysplasia-focal epilepsy syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711247 SCV001945364 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081590 SCV000150756 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081590 SCV001742189 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081590 SCV001928564 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081590 SCV001973205 benign not specified no assertion criteria provided clinical testing

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